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Q49MI3

- CERKL_HUMAN

UniProt

Q49MI3 - CERKL_HUMAN

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Protein

Ceramide kinase-like protein

Gene

CERKL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.2 Publications

GO - Molecular functioni

  1. diacylglycerol kinase activity Source: InterPro
  2. NAD+ kinase activity Source: InterPro

GO - Biological processi

  1. negative regulation of apoptotic process Source: UniProtKB
  2. protein kinase C-activating G-protein coupled receptor signaling pathway Source: InterPro
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Ceramide kinase-like protein
Gene namesi
Name:CERKL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:21699. CERKL.

Subcellular locationi

Cytoplasm. Nucleusnucleolus
Note: Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. endoplasmic reticulum Source: UniProtKB
  3. Golgi apparatus Source: UniProtKB
  4. nucleolus Source: UniProtKB
  5. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Golgi apparatus, Nucleus

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 26 (RP26) [MIM:608380]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti106 – 1061R → S in RP26. 1 Publication
VAR_065182

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi104 – 1063KRR → GGG: Only cytoplasmic. 1 Publication
Mutagenesisi260 – 2601G → D: Loss of nuclear localization; in isoform 2. 1 Publication

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

MIMi608380. phenotype.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA134984780.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 558558Ceramide kinase-like proteinPRO_0000181356Add
BLAST

Post-translational modificationi

Phosphorylated on serine residues.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ49MI3.
PRIDEiQ49MI3.

PTM databases

PhosphoSiteiQ49MI3.

Expressioni

Tissue specificityi

Isoform 1 and isoform 2 are expressed in adult retina, liver and pancreas as well as in fetal brain, lung and kidney. Isoform 3 is expressed in adult retina as well as in fetal lung and liver. Isoform 4 is expressed in adult retina, lung and kidney as well as in fetal lung and liver. Moderately expressed in retina, kidney, lung, testis, trachea, and pancreas. Weakly expressed in brain, placenta and liver.3 Publications

Developmental stagei

Expressed in fetal lung, kidney and brain.1 Publication

Gene expression databases

BgeeiQ49MI3.
ExpressionAtlasiQ49MI3. baseline.
GenevestigatoriQ49MI3.

Organism-specific databases

HPAiHPA035444.

Structurei

3D structure databases

ProteinModelPortaliQ49MI3.
SMRiQ49MI3. Positions 160-550.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini164 – 339176DAGKcPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi2 – 98Nuclear localization signal 1Sequence Analysis
Motifi102 – 1065Nuclear localization signal 2

Sequence similaritiesi

Contains 1 DAGKc domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG296399.
GeneTreeiENSGT00690000101761.
HOGENOMiHOG000231784.
HOVERGENiHBG102265.
InParanoidiQ49MI3.
OMAiPWNVDGD.
OrthoDBiEOG78D7JT.
PhylomeDBiQ49MI3.
TreeFamiTF314514.

Family and domain databases

InterProiIPR016064. ATP-NAD_kinase_PpnK-typ.
IPR001206. Diacylglycerol_kinase_cat_dom.
[Graphical view]
PfamiPF00781. DAGK_cat. 1 hit.
[Graphical view]
SUPFAMiSSF111331. SSF111331. 2 hits.
PROSITEiPS50146. DAGK. 1 hit.
[Graphical view]

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q49MI3-1) [UniParc]FASTAAdd to Basket

Also known as: b

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MPWRRRRNRV SALEGGREEE APPEAAAVPP ALLTSPQQTE AAAERILLRG
60 70 80 90 100
IFEIGRDSCD VVLSERALRW RPIQPERPAG DSKYDLLCKE EFIELKDIFS
110 120 130 140 150
VKLKRRCSVK QQRSGTLLGI TLFICLKKEQ NKLKNSTLDL INLSEDHCDI
160 170 180 190 200
WFRQFKKILA GFPNRPKSLK ILLNPQSHKK EATQVYYEKV EPLLKLAGIK
210 220 230 240 250
TDVTIMEYEG HALSLLKECE LQGFDGGHRK PLFAIHWSVQ RLFTGMQTLE
260 270 280 290 300
PSVVCVGGDG SASEVAHALL LRAQKNAGME TDRILTPVRA QLPLGLIPAG
310 320 330 340 350
STNVLAHSLH GVPHVITATL HIIMGHVQLV DVCTFSTAGK LLRFGFSAMF
360 370 380 390 400
GFGGRTLALA EKYRWMSPNQ RRDFAVVKAL AKLKAEDCEI SFLPFNSSDD
410 420 430 440 450
VQERRAQGSP KSDCNDQWQM IQGQFLNVSI MAIPCLCSVA PRGLAPNTRL
460 470 480 490 500
NNGSMALIIA RNTSRPEFIK HLKRYASVKN QFNFPFVETY TVEEVKVHPR
510 520 530 540 550
NNTGGYNPEE EEDETASENC FPWNVDGDLM EVASEVHIRL HPRLISLYGG

SMEEMIPK
Length:558
Mass (Da):62,622
Last modified:September 13, 2005 - v1
Checksum:i305B6BB82CE977CB
GO
Isoform 2 (identifier: Q49MI3-2) [UniParc]FASTAAdd to Basket

Also known as: a

The sequence of this isoform differs from the canonical sequence as follows:
     227-252: Missing.

Show »
Length:532
Mass (Da):59,603
Checksum:iC73E590F7C25EED1
GO
Isoform 3 (identifier: Q49MI3-3) [UniParc]FASTAAdd to Basket

Also known as: d

The sequence of this isoform differs from the canonical sequence as follows:
     205-300: IMEYEGHALS...QLPLGLIPAG → R

Show »
Length:463
Mass (Da):52,445
Checksum:i36F0E7DC8396890A
GO
Isoform 4 (identifier: Q49MI3-4) [UniParc]FASTAAdd to Basket

Also known as: c

The sequence of this isoform differs from the canonical sequence as follows:
     160-298: Missing.

Show »
Length:419
Mass (Da):47,370
Checksum:i26CAF6FA94820DF0
GO
Isoform 5 (identifier: Q49MI3-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     227-252: Missing.
     405-558: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:378
Mass (Da):42,209
Checksum:i2372D50CA3BA00EA
GO
Isoform 7 (identifier: Q49MI3-7) [UniParc]FASTAAdd to Basket

Also known as: f

The sequence of this isoform differs from the canonical sequence as follows:
     205-217: IMEYEGHALSLLK → MLSVLVEMDLLAK
     218-558: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:217
Mass (Da):24,836
Checksum:iCA3A37FC7F29CF7A
GO
Isoform 8 (identifier: Q49MI3-8) [UniParc]FASTAAdd to Basket

Also known as: e

The sequence of this isoform differs from the canonical sequence as follows:
     161-173: GFPNRPKSLKILL → VLSVLVEMDLLAK
     174-558: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:173
Mass (Da):19,828
Checksum:i184DD8A7AF71BF41
GO
Isoform 9 (identifier: Q49MI3-9) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     161-205: GFPNRPKSLKILLNPQSHKKEATQVYYEKVEPLLKLAGIKTDVTI → V

Show »
Length:514
Mass (Da):57,632
Checksum:i012117C9A56696B1
GO

Sequence cautioni

The sequence CAG26980.1 differs from that shown. Reason: Frameshift at several positions.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti129 – 1291E → D in CAG26980. (PubMed:15708351)Curated
Sequence conflicti178 – 1781H → R in CAG26978. (PubMed:15708351)Curated
Sequence conflicti210 – 2101G → E in CAG26977. (PubMed:15708351)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti106 – 1061R → S in RP26. 1 Publication
VAR_065182
Natural varianti232 – 2321L → F.
Corresponds to variant rs10185262 [ dbSNP | Ensembl ].
VAR_053688
Natural varianti514 – 5141E → G.
Corresponds to variant rs35955809 [ dbSNP | Ensembl ].
VAR_053689

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei160 – 298139Missing in isoform 4. 1 PublicationVSP_016653Add
BLAST
Alternative sequencei161 – 20545GFPNR…TDVTI → V in isoform 9. 1 PublicationVSP_042663Add
BLAST
Alternative sequencei161 – 17313GFPNR…LKILL → VLSVLVEMDLLAK in isoform 8. 2 PublicationsVSP_016654Add
BLAST
Alternative sequencei174 – 558385Missing in isoform 8. 2 PublicationsVSP_016655Add
BLAST
Alternative sequencei205 – 30096IMEYE…LIPAG → R in isoform 3. 1 PublicationVSP_016656Add
BLAST
Alternative sequencei205 – 21713IMEYE…LSLLK → MLSVLVEMDLLAK in isoform 7. 3 PublicationsVSP_016657Add
BLAST
Alternative sequencei218 – 558341Missing in isoform 7. 3 PublicationsVSP_016658Add
BLAST
Alternative sequencei227 – 25226Missing in isoform 2 and isoform 5. 3 PublicationsVSP_016659Add
BLAST
Alternative sequencei405 – 558154Missing in isoform 5. 1 PublicationVSP_016660Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY357073 mRNA. Translation: AAR13670.1.
AY690329 mRNA. Translation: AAW47988.1.
AY690330 mRNA. Translation: AAW47989.1.
AY690331 mRNA. Translation: AAW47990.1.
AY690332 mRNA. Translation: AAW47991.1.
AY690333 mRNA. Translation: AAW47992.1.
AJ640141 mRNA. Translation: CAG26695.1.
AJ697855 mRNA. Translation: CAG26977.1.
AJ697856 mRNA. Translation: CAG26978.1.
AJ697858 mRNA. Translation: CAG26980.1. Frameshift.
AK129976 mRNA. Translation: BAC85266.1. Sequence problems.
AK293844 mRNA. Translation: BAG57242.1.
AC013733 Genomic DNA. No translation available.
AC020595 Genomic DNA. No translation available.
BC137498 mRNA. Translation: AAI37499.1.
BC137499 mRNA. Translation: AAI37500.1.
CCDSiCCDS33340.1. [Q49MI3-4]
CCDS33341.1. [Q49MI3-3]
CCDS42789.1. [Q49MI3-1]
CCDS46466.1. [Q49MI3-2]
CCDS54425.1. [Q49MI3-9]
RefSeqiNP_001025482.1. NM_001030311.2. [Q49MI3-1]
NP_001025483.1. NM_001030312.2. [Q49MI3-4]
NP_001025484.1. NM_001030313.2. [Q49MI3-3]
NP_001153749.1. NM_001160277.1. [Q49MI3-9]
NP_963842.1. NM_201548.4. [Q49MI3-2]
UniGeneiHs.732358.

Genome annotation databases

EnsembliENST00000339098; ENSP00000341159; ENSG00000188452. [Q49MI3-1]
ENST00000374967; ENSP00000364106; ENSG00000188452. [Q49MI3-7]
ENST00000374969; ENSP00000364108; ENSG00000188452. [Q49MI3-4]
ENST00000374970; ENSP00000364109; ENSG00000188452. [Q49MI3-3]
ENST00000409440; ENSP00000387080; ENSG00000188452. [Q49MI3-9]
ENST00000410087; ENSP00000386725; ENSG00000188452. [Q49MI3-2]
ENST00000421817; ENSP00000411466; ENSG00000188452. [Q49MI3-8]
ENST00000452174; ENSP00000409198; ENSG00000188452. [Q49MI3-8]
GeneIDi375298.
KEGGihsa:375298.
UCSCiuc002unx.3. human. [Q49MI3-1]
uc002uny.3. human. [Q49MI3-2]
uc002uoa.3. human. [Q49MI3-3]
uc002uoc.3. human. [Q49MI3-4]
uc002uoe.3. human. [Q49MI3-5]
uc010zfm.2. human. [Q49MI3-9]

Polymorphism databases

DMDMi84028814.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY357073 mRNA. Translation: AAR13670.1 .
AY690329 mRNA. Translation: AAW47988.1 .
AY690330 mRNA. Translation: AAW47989.1 .
AY690331 mRNA. Translation: AAW47990.1 .
AY690332 mRNA. Translation: AAW47991.1 .
AY690333 mRNA. Translation: AAW47992.1 .
AJ640141 mRNA. Translation: CAG26695.1 .
AJ697855 mRNA. Translation: CAG26977.1 .
AJ697856 mRNA. Translation: CAG26978.1 .
AJ697858 mRNA. Translation: CAG26980.1 . Frameshift.
AK129976 mRNA. Translation: BAC85266.1 . Sequence problems.
AK293844 mRNA. Translation: BAG57242.1 .
AC013733 Genomic DNA. No translation available.
AC020595 Genomic DNA. No translation available.
BC137498 mRNA. Translation: AAI37499.1 .
BC137499 mRNA. Translation: AAI37500.1 .
CCDSi CCDS33340.1. [Q49MI3-4 ]
CCDS33341.1. [Q49MI3-3 ]
CCDS42789.1. [Q49MI3-1 ]
CCDS46466.1. [Q49MI3-2 ]
CCDS54425.1. [Q49MI3-9 ]
RefSeqi NP_001025482.1. NM_001030311.2. [Q49MI3-1 ]
NP_001025483.1. NM_001030312.2. [Q49MI3-4 ]
NP_001025484.1. NM_001030313.2. [Q49MI3-3 ]
NP_001153749.1. NM_001160277.1. [Q49MI3-9 ]
NP_963842.1. NM_201548.4. [Q49MI3-2 ]
UniGenei Hs.732358.

3D structure databases

ProteinModelPortali Q49MI3.
SMRi Q49MI3. Positions 160-550.
ModBasei Search...
MobiDBi Search...

PTM databases

PhosphoSitei Q49MI3.

Polymorphism databases

DMDMi 84028814.

Proteomic databases

PaxDbi Q49MI3.
PRIDEi Q49MI3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000339098 ; ENSP00000341159 ; ENSG00000188452 . [Q49MI3-1 ]
ENST00000374967 ; ENSP00000364106 ; ENSG00000188452 . [Q49MI3-7 ]
ENST00000374969 ; ENSP00000364108 ; ENSG00000188452 . [Q49MI3-4 ]
ENST00000374970 ; ENSP00000364109 ; ENSG00000188452 . [Q49MI3-3 ]
ENST00000409440 ; ENSP00000387080 ; ENSG00000188452 . [Q49MI3-9 ]
ENST00000410087 ; ENSP00000386725 ; ENSG00000188452 . [Q49MI3-2 ]
ENST00000421817 ; ENSP00000411466 ; ENSG00000188452 . [Q49MI3-8 ]
ENST00000452174 ; ENSP00000409198 ; ENSG00000188452 . [Q49MI3-8 ]
GeneIDi 375298.
KEGGi hsa:375298.
UCSCi uc002unx.3. human. [Q49MI3-1 ]
uc002uny.3. human. [Q49MI3-2 ]
uc002uoa.3. human. [Q49MI3-3 ]
uc002uoc.3. human. [Q49MI3-4 ]
uc002uoe.3. human. [Q49MI3-5 ]
uc010zfm.2. human. [Q49MI3-9 ]

Organism-specific databases

CTDi 375298.
GeneCardsi GC02M182401.
GeneReviewsi CERKL.
HGNCi HGNC:21699. CERKL.
HPAi HPA035444.
MIMi 608380. phenotype.
608381. gene.
neXtProti NX_Q49MI3.
Orphaneti 791. Retinitis pigmentosa.
PharmGKBi PA134984780.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG296399.
GeneTreei ENSGT00690000101761.
HOGENOMi HOG000231784.
HOVERGENi HBG102265.
InParanoidi Q49MI3.
OMAi PWNVDGD.
OrthoDBi EOG78D7JT.
PhylomeDBi Q49MI3.
TreeFami TF314514.

Miscellaneous databases

GenomeRNAii 375298.
NextBioi 100456.
PROi Q49MI3.
SOURCEi Search...

Gene expression databases

Bgeei Q49MI3.
ExpressionAtlasi Q49MI3. baseline.
Genevestigatori Q49MI3.

Family and domain databases

InterProi IPR016064. ATP-NAD_kinase_PpnK-typ.
IPR001206. Diacylglycerol_kinase_cat_dom.
[Graphical view ]
Pfami PF00781. DAGK_cat. 1 hit.
[Graphical view ]
SUPFAMi SSF111331. SSF111331. 2 hits.
PROSITEi PS50146. DAGK. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26)."
    Tuson M., Marfany G., Gonzalez-Duarte R.
    Am. J. Hum. Genet. 74:128-138(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 7 AND 8), INVOLVEMENT IN RP26, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    Tissue: Retina.
  2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 5; 7 AND 8), FUNCTION, TISSUE SPECIFICITY, PHOSPHORYLATION, SUBCELLULAR LOCATION, MUTAGENESIS OF GLY-260.
    Tissue: Brain.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 9), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 199-558 (ISOFORM 7).
    Tissue: Kidney.
  4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  6. "Subcellular localization of ceramide kinase and ceramide kinase-like protein requires interplay of their Pleckstrin Homology domain-containing N-terminal regions together with C-terminal domains."
    Rovina P., Schanzer A., Graf C., Mechtcheriakova D., Jaritz M., Bornancin F.
    Biochim. Biophys. Acta 1791:1023-1030(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF 104-LYS--ARG-106.
  7. "Overexpression of CERKL, a gene responsible for retinitis pigmentosa in humans, protects cells from apoptosis induced by oxidative stress."
    Tuson M., Garanto A., Gonzalez-Duarte R., Marfany G.
    Mol. Vis. 15:168-180(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  8. "A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration."
    Ali M., Ramprasad V.L., Soumittra N., Mohamed M.D., Jafri H., Rashid Y., Danciger M., McKibbin M., Kumaramanickavel G., Inglehearn C.F.
    Mol. Vis. 14:1960-1964(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP26 SER-106.

Entry informationi

Entry nameiCERKL_HUMAN
AccessioniPrimary (citable) accession number: Q49MI3
Secondary accession number(s): B2RPL2
, B4DEY1, Q49MH9, Q49MI0, Q49MI1, Q49MI2, Q5DVJ2, Q5DVJ4, Q5DVJ5, Q6UZF6, Q6ZP59
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: September 13, 2005
Last modified: October 29, 2014
This is version 87 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3